G9E (p.Gly9Glu) variant of PRKAA2 (P54646)
G9E (p.Gly9Glu) in PRKAA2 (P54646) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
G9E (p.Gly9Glu) variant details
- p.Gly9Glu
- TOPMed rs1434366087
- gnomAD rs1434366087
- Missense
- Variant Prioritization Score for Impact Estimate 0.45
- REVEL 0.36
- MetaLR 0.16
- MetaSVM -0.84
- CADD 23.30
- PolyPhen-2 0.37
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available